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Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration
Published on: December 27, 2024
Growth and nutrition in children with ataxia telangiectasia
Emma Stewart1, Andrew P Prayle2, Alison Tooke1
1Nottingham Children's Hospital, National Paediatric Ataxia Telangiectasia Clinic, QMC, Nottingham, UK.
Insights
Children with Ataxia-Telangiectasia (A-T) experience progressive growth failure. Early consideration of percutaneous endoscopic gastrostomy (PEG) feeding from age 8 may improve nutritional outcomes and prevent decline.
Area of Science:
- Pediatric Medicine
- Genetics
- Nutrition Science
Background:
- Ataxia-Telangiectasia (A-T) is a rare, severe genetic disorder impacting multiple organ systems.
- A-T is associated with high early mortality, primarily due to pulmonary complications and cancer.
- Nutritional status significantly influences outcomes in pediatric respiratory diseases, including A-T.
Purpose of the Study:
- To investigate the hypothesis of progressive growth failure in children with A-T.
- To evaluate the efficacy of early percutaneous endoscopic gastrostomy (PEG) feeding as a management strategy.
- To assess nutritional outcomes in children with A-T.
Main Methods:
- Prospective data collection on weight, height, and BMI Z-scores at a national A-T clinic.
- Assessment of oral intake adequacy and safety.
- Nutritional advice provided during multidisciplinary reviews.
Main Results:
- 101 children with A-T showed declining weight, height, and BMI Z-scores over time, particularly after age 8.
- 35% of children had weight Z-scores below -2 on at least one occasion.
- A trend towards improved weight was observed in the 14% of children who received PEG feeding.
Conclusions:
- Children with A-T exhibit progressive growth faltering.
- Understanding the mechanisms of growth failure in A-T is crucial for developing new interventions.
- Proactive consideration of PEG feeding from age 8 onwards is recommended to mitigate progressive growth failure.
Background:
Ataxia telangiectasia (A-T) is a rare multisystem disease with high early mortality from lung disease and cancer. Nutritional failure adversely impacts outcomes in many respiratory diseases. Several factors influence nutrition in children with A-T. We hypothesised that children with A-T have progressive growth failure and that early gastrostomy tube feeding (percutaneous endoscopic gastrostomy, PEG) is a favourable management option with good nutritional outcomes.
Methods:
Data were collected prospectively on weight, height and body mass index (BMI) at the national paediatric A-T clinic. Adequacy and safety of oral intake was assessed. Nutritional advice was given at each multidisciplinary review.
Results:
101 children (51 girls) had 222 measurements (32 once, 32 twice, 24 thrice) between 2009 and 2016. Median (IQR) age was 9.3 (6.4 to 13.1) years. Mean (SD) weight, height and BMI Z-scores were respectively -1 (1.6), -1.2 (1.2) and -0.4 (1.4). 35/101 children had weight Z-scores below -2 on at least one occasion. Weight, height and BMI Z-scores declined over time. Decline was most obvious after 8 years of age. 14/101 (14%) children had a PEG, with longitudinal data available for 12. In a nested case control study, there was a trend for improvement in weight in those with a PEG (p=0.10).
Conclusions:
Patients with A-T decline in growth over time. There is an urgent need for new strategies, including an understanding of why growth falters. We suggest early proactive consideration of PEG from age 8 years onwards to prevent progressive growth failure.
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